ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3075624143
Gene: ADAMTSL2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055509.2:p.Pro147Gln
CA375404236
NM_014694.3:c.440C>A